Ankle1 ankyrin repeat and LEM domain containing 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ankle1provided by MGI
Official Full Name: ankyrin repeat and LEM domain containing 1provided by MGI
Primary source: MGI:MGI:1918775
See related: Ensembl:ENSMUSG00000046295 AllianceGenome:MGI:1918775
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Lem3; Ankrd41; C430003I23; 8430438L13Rik
Summary: Predicted to enable endonuclease activity. Involved in negative regulation of mitotic recombination; regulation of lymphoid progenitor cell differentiation; and regulation of myeloid progenitor cell differentiation. Predicted to be located in cytosol and nucleoplasm. Predicted to colocalize with nucleus. Orthologous to human ANKLE1 (ankyrin repeat and LEM domain containing 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in liver E14.5 (RPKM 28.4), liver E14 (RPKM 23.3) and 16 other tissues See more
Orthologs: human all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 8 B3.3; 8 34.43 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (71858630..71868475)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (71405986..71410728)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

lack of Ankle1 does neither affect mouse hematopoiesis nor DNA damage repair in mouse embryonic fibroblasts, indicating a redundant or non-essential function of ANKLE1 in mouse
Title: The GIY-YIG Type Endonuclease Ankyrin Repeat and LEM Domain-Containing Protein 1 (ANKLE1) Is Dispensable for Mouse Hematopoiesis.

Submit: New GeneRIF Correction

Variation

Go to the top of the page Help

Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation

General gene information

Go to the top of the page Help

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA endonuclease activity	IBA Inferred from Biological aspect of Ancestor more info
enables endonuclease activity	ISO Inferred from Sequence Orthology more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables nuclease activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
NOT involved_in DNA damage response	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in DNA repair	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in determination of adult lifespan	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in double-strand break repair via homologous recombination	IBA Inferred from Biological aspect of Ancestor more info
NOT involved_in erythrocyte maturation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of mitotic recombination	IGI Inferred from Genetic Interaction more info	PubMed
involved_in protein export from nucleus	ISO Inferred from Sequence Orthology more info
NOT involved_in regulation of B cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in regulation of T cell differentiation in thymus	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in regulation of alpha-beta T cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of lymphoid progenitor cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of myeloid progenitor cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in resolution of meiotic recombination intermediates	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
colocalizes_with nucleus	ISO Inferred from Sequence Orthology more info

General protein information

Go to the top of the page Help

Preferred Names: ankyrin repeat and LEM domain-containing protein 1

Names: LEM-domain containing 3; LEM-domain containing protein 3; ankyrin repeat domain 41; ankyrin repeat domain-containing protein 41

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001310502.1 → NP_001297431.1 ankyrin repeat and LEM domain-containing protein 1 isoform 2

See identical proteins and their annotated locations for NP_001297431.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.

Source sequence(s)

AK083552, BC094316, CJ046325, EU184014

Consensus CDS

CCDS80893.1

UniProtKB/Swiss-Prot

A8VU90

Related

ENSMUSP00000112797.2, ENSMUST00000120725.2

Conserved Domains (6) summary

cd10454
Location:352 → 464

GIY-YIG_COG3680_Meta; GIY-YIG domain of hypothetical proteins from Metazoa

cd00204
Location:26 → 128

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam12796
Location:26 → 106

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:76 → 128

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:75 → 106

ANK; ANK repeat [structural motif]

cl02649
Location:265 → 302

LEM; LEM (Lap2/Emerin/Man1) domain found in emerin, lamina-associated polypeptide 2 (LAP2), inner nuclear membrane protein Man1 and similar proteins
NM_172756.3 → NP_766344.2 ankyrin repeat and LEM domain-containing protein 1 isoform 1

See identical proteins and their annotated locations for NP_766344.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AK083552, BC094316, CJ046325, EU184014

Consensus CDS

CCDS52583.1

UniProtKB/Swiss-Prot

A6H5W1, A8VU90, G5E8T1, Q8C4V5, Q8K2N6

Related

ENSMUSP00000113162.2, ENSMUST00000119976.8

Conserved Domains (6) summary

cd10454
Location:372 → 484

GIY-YIG_COG3680_Meta; GIY-YIG domain of hypothetical proteins from Metazoa

cd00204
Location:26 → 128

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam12796
Location:26 → 106

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:76 → 128

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:75 → 106

ANK; ANK repeat [structural motif]

cl02649
Location:285 → 322

LEM; LEM (Lap2/Emerin/Man1) domain found in emerin, lamina-associated polypeptide 2 (LAP2), inner nuclear membrane protein Man1 and similar proteins

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000074.7 Reference GRCm39 C57BL/6J

Range

71858630..71868475

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006509661.5 → XP_006509724.1 ankyrin repeat and LEM domain-containing protein 1 isoform X1

Conserved Domains (4) summary

PTZ00322
Location:60 → 139

PTZ00322; 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase; Provisional

cd10454
Location:351 → 463

GIY-YIG_COG3680_Meta; GIY-YIG domain of hypothetical proteins from Metazoa

sd00045
Location:75 → 106

ANK; ANK repeat [structural motif]

cl02649
Location:264 → 301

LEM; LEM (Lap2/Emerin/Man1) domain found in emerin, lamina-associated polypeptide 2 (LAP2), inner nuclear membrane protein Man1 and similar proteins
XM_030243488.2 → XP_030099348.1 ankyrin repeat and LEM domain-containing protein 1 isoform X2

Conserved Domains (2) summary

cd10454
Location:88 → 200

GIY-YIG_COG3680_Meta; GIY-YIG domain of hypothetical proteins from Metazoa

cl02649
Location:1 → 38

LEM; LEM (Lap2/Emerin/Man1) domain found in emerin, lamina-associated polypeptide 2 (LAP2), inner nuclear membrane protein Man1 and similar proteins
XM_036153950.1 → XP_036009843.1 ankyrin repeat and LEM domain-containing protein 1 isoform X2

Conserved Domains (2) summary

cd10454
Location:88 → 200

GIY-YIG_COG3680_Meta; GIY-YIG domain of hypothetical proteins from Metazoa

cl02649
Location:1 → 38

LEM; LEM (Lap2/Emerin/Man1) domain found in emerin, lamina-associated polypeptide 2 (LAP2), inner nuclear membrane protein Man1 and similar proteins